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Author Details

Nicole Walley
Duke University School of Medicine and Duke Health System
2007
29
20
PMIDPaper TitleJournal TitlePublished Year
37005744Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.J Genet Couns2023
37667351Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.Orphanet J Rare Dis2023
36317458A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay.Hum Mutat2022
35441233Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.Brain2022
33955715Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.Mol Genet Genomic Med2021
32802951D-DEMÿ, a distinct phenotype caused by <i>ATP1A3</i> mutations.Neurol Genet2020
31448412The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.Clin Genet2019
31819912Genomic and clinical predictors of lacosamide response in refractory epilepsies.Epilepsia Open2019
29907797A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.Genet Med2019
28914269Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.Genet Med2018
30134969Characteristics of undiagnosed diseases network applicants: implications for referring providers.BMC Health Serv Res2018
29970384Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.Cold Spring Harb Mol Case Stud2018
30304647Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.N Engl J Med2018
28864461Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.Cold Spring Harb Mol Case Stud2017
28416019A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network.Orphanet J Rare Dis2017
28132692A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.Am J Hum Genet2017
26799155Differential gene expression in dentate granule cells in mesial temporal lobe epilepsy with and without hippocampal sclerosis.Epilepsia2016
24529449Air and surface contamination patterns of meticillin-resistant Staphylococcus aureus on eight acute hospital wards.J Hosp Infect2014
22379998Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.Pharmacogenomics2012
22863189Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.Am J Hum Genet2012
22842232De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.Nat Genet2012
21428769HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.N Engl J Med2011
20398883Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.Am J Hum Genet2010
20205591Host determinants of HIV-1 control in African Americans.J Infect Dis2010
19454339The Duffy antigen receptor for chemokines null promoter variant does not influence HIV-1 acquisition or disease progression.Cell Host Microbe2009
18813134Genetic determinants of variable metabolism have little impact on the clinical use of leading antipsychotics in the CATIE study.Genet Med2008
17237123Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation.J Med Genet2007
17437413A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy.Epilepsia2007
17913586Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study.Lancet Neurol2007
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Collaborators

David B Goldstein
Institute for Genomic Medicine, Columbia University Irving Medical Center
Co-authored papers 15
Vandana Shashi
Duke University School of Medicine
Co-authored papers 12
Sanjay M Sisodiya
UCL Institute of Neurology
Co-authored papers 9
Erin L Heinzen
University of North Carolina at Chapel Hill.
Co-authored papers 9
Kelly Schoch
Duke University School of Medicine
Co-authored papers 9
Kevin V Shianna
Illumina Inc. 5200 Illumina Way
Co-authored papers 8
Allyn McConkie-Rosell
Duke University School of Medicine and Duke Health System
Co-authored papers 8
Yong-Hui Jiang
Yale University School of Medicine
Co-authored papers 7
Mohamad A Mikati
Duke University School of Medicine
Co-authored papers 7
Gianpiero L Cavalleri
School of Pharmacy and Biomolecular Sciences, Ireland FutureNeuro SFI Research Centre
Co-authored papers 7
Norman Delanty
FutureNeuro SFI Research Centre, The Royal College of Surgeons in Ireland
Co-authored papers 7
Rebecca C Spillmann
Duke University School of Medicine
Co-authored papers 7
Rodney A Radtke
Duke University Medical Center
Co-authored papers 7
Curtis Gumbs
The University of Texas MD Anderson Cancer Center
Co-authored papers 7
Chantal Depondt
Hopital Universitaire de Bruxelles - Hopital Erasme
Co-authored papers 7
Loren D M Pena
Duke University Medical Center
Co-authored papers 6
Heidi Cope
GenOmics and Translational Research Center
Co-authored papers 5
Kenneth D Cronin
Human Vaccine Institute, Duke University Medical Center Durham
Co-authored papers 5
Dongliang Ge
Department of Pharmacy, Liyang People's Hospital
Co-authored papers 5
Stephen R Hooper
University of North Carolina-Chapel Hill
Co-authored papers 4
Massimo Pandolfo
Universite Libre de Bruxelles (ULB)
Co-authored papers 4
Anna C Need
Imperial College London
Co-authored papers 4
Colin P Doherty
St James's Hospital
Co-authored papers 4
Jennifer A Sullivan
Duke University School of Medicine
Co-authored papers 4
Mary Carrington
Frederick National Laboratory for Cancer Research, National Cancer Institute
Co-authored papers 3
Jessica M Maia
Institute for Genomic Medicine, Columbia University
Co-authored papers 3
Michael R Johnson
Imperial College London
Co-authored papers 3
Josemir W Sander
West China Hospital of Sichuan University
Co-authored papers 3
Dalia Kasperaviciute
Genomics England Ltd.
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Ingrid E Scheffer
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Release 1.2